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Gene FGFR1
Variant R120H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 R120H (corresponds to R209H in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). R120H has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R120H

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Transcript NM_023105.3
gDNA chr8:g.38426241C>T
cDNA c.359G>A
Protein p.R120H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716312 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_001174066 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716311 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716310.3 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_023105.2 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_023105 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
NM_001174066.1 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716310 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38426241C>T c.359G>A p.R120H RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References